Mutagenetix > Incidental Mutation

Incidental Mutation 'PIT4468001:Srp72'

555632

Institutional Source

Beutler Lab

Gene Symbol

Srp72

Ensembl Gene

ENSMUSG00000036323

Gene Name

signal recognition particle 72

Synonyms

5730576P14Rik, 72kDa

Accession Numbers

Essential gene?

Probably essential (E-score: 0.947) question?

Stock #

PIT4468001 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

77122548-77147782 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 77142053 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Lysine at position 430 (T430K)

Ref Sequence

ENSEMBL: ENSMUSP00000098648 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000101087] [ENSMUST00000120550]

AlphaFold

F8VQC1

Predicted Effect

probably benign
Transcript: ENSMUST00000101087
AA Change: T430K

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000098648
Gene: ENSMUSG00000036323
AA Change: T430K

Domain	Start	End	E-Value	Type
low complexity region	3	11	N/A	INTRINSIC
Pfam:TPR_9	19	70	2.7e-2	PFAM
Pfam:SRP_TPR_like	30	157	5.5e-25	PFAM
Pfam:TPR_8	176	208	2.3e-3	PFAM
Pfam:TPR_1	226	259	2.4e-4	PFAM
Pfam:TPR_2	226	259	4.9e-5	PFAM
Pfam:TPR_8	226	259	1.1e-2	PFAM
Pfam:TPR_9	412	490	1.3e-3	PFAM
Pfam:SRP72	531	588	6.2e-26	PFAM
low complexity region	630	639	N/A	INTRINSIC
low complexity region	647	668	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000120550
AA Change: T369K

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000113312
Gene: ENSMUSG00000036323
AA Change: T369K

Domain	Start	End	E-Value	Type
low complexity region	3	11	N/A	INTRINSIC
Pfam:TPR_9	19	72	2.5e-2	PFAM
Blast:TPR	109	142	2e-11	BLAST
Blast:TPR	176	209	5e-10	BLAST
Pfam:TPR_6	280	310	2.5e-3	PFAM
Pfam:TPR_9	351	429	1.4e-3	PFAM
Pfam:SRP72	465	527	5.8e-24	PFAM
low complexity region	569	578	N/A	INTRINSIC
low complexity region	586	607	N/A	INTRINSIC

Coding Region Coverage

1x: 93.0%
3x: 90.7%
10x: 85.2%
20x: 72.8%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes the 72 kDa subunit of the signal recognition particle (SRP), a ribonucleoprotein complex that mediates the targeting of secretory proteins to the endoplasmic reticulum (ER). The SRP complex consists of a 7S RNA and 6 protein subunits: SRP9, SRP14, SRP19, SRP54, SRP68, and SRP72, that are bound to the 7S RNA as monomers or heterodimers. SRP has at least 3 distinct functions that can be associated with the protein subunits: signal recognition, translational arrest, and ER membrane targeting by interaction with the docking protein. Mutations in this gene are associated with familial bone marrow failure. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2012]

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610042L04Rik	C	T	14: 4,348,940 (GRCm38)	L34F	probably damaging	Het
Alms1	T	C	6: 85,601,701 (GRCm39)		probably null	Het
Arhgap15	C	A	2: 44,133,143 (GRCm39)	Q350K	probably damaging	Het
Bbs1	T	A	19: 4,956,190 (GRCm39)	H35L	probably benign	Het
Cep85	T	C	4: 133,876,008 (GRCm39)	N468S	probably damaging	Het
Chd8	T	C	14: 52,455,338 (GRCm39)	I1050V	possibly damaging	Het
Chd8	A	C	14: 52,445,453 (GRCm39)	D1709E	probably benign	Het
Clec9a	G	A	6: 129,396,597 (GRCm39)		probably null	Het
Cyp2c70	T	A	19: 40,153,806 (GRCm39)	D261V	probably damaging	Het
Deup1	T	C	9: 15,475,301 (GRCm39)	N420D	possibly damaging	Het
Dpys	T	A	15: 39,720,601 (GRCm39)	D53V	probably damaging	Het
Edem1	A	G	6: 108,821,828 (GRCm39)	E295G	probably damaging	Het
Farp2	G	T	1: 93,456,499 (GRCm39)	E61*	probably null	Het
Fat3	T	G	9: 15,907,647 (GRCm39)	D2785A	probably benign	Het
Fbxo30	T	A	10: 11,166,700 (GRCm39)	M474K	possibly damaging	Het
Gm13090	C	A	4: 151,175,539 (GRCm39)	P93Q	unknown	Het
Gm21976	A	T	13: 98,443,535 (GRCm39)	R229*	probably null	Het
Gpr108	A	T	17: 57,554,563 (GRCm39)	L25Q	probably null	Het
Hdac9	C	A	12: 34,145,933 (GRCm39)	V920F	unknown	Het
Ighv13-2	T	C	12: 114,321,593 (GRCm39)	S49G	probably benign	Het
Krt6a	T	C	15: 101,602,352 (GRCm39)	Y111C	probably damaging	Het
Mib1	T	C	18: 10,798,463 (GRCm39)	S775P	possibly damaging	Het
Mki67	A	G	7: 135,300,876 (GRCm39)	I1386T	probably benign	Het
Mroh2b	A	G	15: 4,942,294 (GRCm39)	E352G	probably damaging	Het
Nfya	A	G	17: 48,702,805 (GRCm39)	M61T	unknown	Het
Ntn4	A	G	10: 93,480,587 (GRCm39)	T104A	probably damaging	Het
Numb	G	A	12: 83,854,921 (GRCm39)	T135I	probably damaging	Het
Or4b12	C	A	2: 90,096,564 (GRCm39)	C70F	probably benign	Het
Or52ab4	A	C	7: 102,987,807 (GRCm39)	E182A	probably damaging	Het
Or5m5	A	T	2: 85,814,792 (GRCm39)	T203S	probably benign	Het
Parpbp	A	C	10: 87,979,935 (GRCm39)	L7R	probably benign	Het
Pcdhb8	T	C	18: 37,489,686 (GRCm39)	Y455H	probably damaging	Het
Pcdhga10	T	A	18: 37,880,936 (GRCm39)	D232E	probably damaging	Het
Pcdhga9	T	A	18: 37,872,527 (GRCm39)	C785*	probably null	Het
Pkd1l3	A	G	8: 110,391,131 (GRCm39)	Y1913C	possibly damaging	Het
Pld4	T	G	12: 112,734,256 (GRCm39)	L374R	probably damaging	Het
Ppp1r13b	A	T	12: 111,805,136 (GRCm39)	I350N	probably benign	Het
Rc3h2	C	A	2: 37,289,651 (GRCm39)	G387V	probably damaging	Het
Rfwd3	T	C	8: 112,009,352 (GRCm39)	H408R	probably benign	Het
Rpl3l	A	G	17: 24,954,457 (GRCm39)	T173A	probably benign	Het
Sdad1	T	C	5: 92,439,777 (GRCm39)	D416G	probably damaging	Het
Steap1	C	A	5: 5,786,642 (GRCm39)	G265V	probably damaging	Het
Sulf2	A	T	2: 165,922,720 (GRCm39)	I670N	probably benign	Het
Tcf7l2	A	T	19: 55,730,820 (GRCm39)	D16V	probably damaging	Het
Tmem100	T	A	11: 89,926,187 (GRCm39)	S5T	probably benign	Het
Tnc	C	A	4: 63,882,904 (GRCm39)	D1906Y	probably damaging	Het
Trak1	T	C	9: 121,282,398 (GRCm39)	S436P	probably benign	Het
Ttyh1	T	C	7: 4,122,771 (GRCm39)	Y40H	possibly damaging	Het
Ubxn8	T	A	8: 34,111,569 (GRCm39)	S275C	probably benign	Het
Umodl1	A	G	17: 31,178,252 (GRCm39)	Y76C	probably damaging	Het
Upk3b	C	T	5: 136,071,861 (GRCm39)	T222M	probably benign	Het
Usp42	T	A	5: 143,700,399 (GRCm39)	K1208M	probably damaging	Het
Vmn2r25	A	T	6: 123,816,557 (GRCm39)	D341E	probably benign	Het
Vmn2r83	T	G	10: 79,313,884 (GRCm39)	L164R	probably damaging	Het
Vwa8	G	T	14: 79,420,501 (GRCm39)	R1734L	probably damaging	Het
Zfand2b	G	T	1: 75,146,476 (GRCm39)	R117L	probably benign	Het

Other mutations in Srp72

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00473:Srp72	APN	5	77,132,023 (GRCm39)	missense	probably damaging	1.00
IGL00915:Srp72	APN	5	77,126,460 (GRCm39)	nonsense	probably null
IGL02731:Srp72	APN	5	77,142,062 (GRCm39)	missense	probably damaging	0.98
R0009:Srp72	UTSW	5	77,135,732 (GRCm39)	missense	probably damaging	0.98
R0318:Srp72	UTSW	5	77,132,047 (GRCm39)	missense	probably benign	0.27
R1645:Srp72	UTSW	5	77,146,125 (GRCm39)	missense	probably benign	0.05
R1678:Srp72	UTSW	5	77,128,154 (GRCm39)	missense	probably damaging	1.00
R1682:Srp72	UTSW	5	77,135,717 (GRCm39)	missense	possibly damaging	0.95
R2037:Srp72	UTSW	5	77,124,338 (GRCm39)	missense	probably damaging	1.00
R2364:Srp72	UTSW	5	77,132,209 (GRCm39)	missense	probably benign	0.00
R2876:Srp72	UTSW	5	77,143,767 (GRCm39)	splice site	probably benign
R4072:Srp72	UTSW	5	77,146,098 (GRCm39)	missense	probably benign	0.24
R4073:Srp72	UTSW	5	77,146,098 (GRCm39)	missense	probably benign	0.24
R4074:Srp72	UTSW	5	77,146,098 (GRCm39)	missense	probably benign	0.24
R4638:Srp72	UTSW	5	77,138,142 (GRCm39)	missense	probably benign	0.00
R4803:Srp72	UTSW	5	77,132,231 (GRCm39)	missense	probably damaging	0.97
R4864:Srp72	UTSW	5	77,132,009 (GRCm39)	missense	probably benign	0.35
R5188:Srp72	UTSW	5	77,122,598 (GRCm39)	missense	possibly damaging	0.54
R5217:Srp72	UTSW	5	77,128,375 (GRCm39)	missense	probably damaging	1.00
R5459:Srp72	UTSW	5	77,132,185 (GRCm39)	missense	probably benign	0.16
R5616:Srp72	UTSW	5	77,135,781 (GRCm39)	missense	probably damaging	1.00
R6460:Srp72	UTSW	5	77,135,838 (GRCm39)	missense	probably damaging	1.00
R6595:Srp72	UTSW	5	77,132,047 (GRCm39)	missense	probably benign	0.27
R6959:Srp72	UTSW	5	77,142,070 (GRCm39)	missense	possibly damaging	0.91
R6986:Srp72	UTSW	5	77,142,723 (GRCm39)	missense	probably benign	0.16
R7674:Srp72	UTSW	5	77,122,673 (GRCm39)	missense	probably damaging	0.98
R8729:Srp72	UTSW	5	77,142,005 (GRCm39)	missense	probably benign	0.11
R9402:Srp72	UTSW	5	77,124,329 (GRCm39)	nonsense	probably null
R9533:Srp72	UTSW	5	77,128,274 (GRCm39)	missense	probably benign	0.00
Z1177:Srp72	UTSW	5	77,146,200 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGGCAGAGATCCCATTCATC -3'
(R):5'- CTTGCAGCTCTACCTTATGTATAAC -3'

Sequencing Primer
(F):5'- GTGGCTCACAACCATCTGTAATGG -3'
(R):5'- ACAATTGTATTTGAACCTGGCATAC -3'

Posted On

2019-06-07